ClinGen Allele Registry
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Canonical Allele Identifier:
PA112571
Gene: EIF2B5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000735327
RCV002283510
RCV002535429
RCV003156122
ClinVar Variation:
598970
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003898.2:p.Arg315Cys
CA88842874
NM_003907.3:c.943C>T